PFKP (phosphofructokinase, platelet)

2007-04-01  

Identity

HGNC
PFKP
LOCATION
10p15.2
LOCUSID
5214
ALIAS
ATP-PFK,PFK-C,PFK-P,PFKF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5214
MIM: 171840
HGNC: 8878
Ensembl: ENSG00000067057

Variants:

dbSNP: 5214
ClinVar: 5214
TCGA: ENSG00000067057
COSMIC: PFKP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067057ENST00000381075Q01813
ENSG00000067057ENST00000381125Q01813
ENSG00000067057ENST00000407806Q5VSR5
ENSG00000067057ENST00000413079H0Y3Y3
ENSG00000067057ENST00000415005B1APP6
ENSG00000067057ENST00000433193H0Y757
ENSG00000067057ENST00000468050V9GY25
ENSG00000067057ENST00000607886V9GYV7

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Pentose phosphate pathwayKEGGko00030
Fructose and mannose metabolismKEGGko00051
Galactose metabolismKEGGko00052
Glycolysis / GluconeogenesisKEGGhsa00010
Pentose phosphate pathwayKEGGhsa00030
Fructose and mannose metabolismKEGGhsa00051
Galactose metabolismKEGGhsa00052
RNA degradationKEGGko03018
RNA degradationKEGGhsa03018
Metabolic pathwaysKEGGhsa01100
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGhsa_M00001
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGM00001
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Thyroid hormone signaling pathwayKEGGhsa04919
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GlycolysisREACTOMER-HSA-70171

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
176589512007Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.566
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
233899942013Tat-activating regulatory DNA-binding protein regulates glycolysis in hepatocellular carcinoma by regulating the platelet isoform of phosphofructokinase through microRNA 520.30
281767592017Snail reprograms glucose metabolism by repressing phosphofructokinase PFKP allowing cancer cell survival under metabolic stress.29
215867972011Krüppel-like factor 4 (KLF4) activates the transcription of the gene for the platelet isoform of phosphofructokinase (PFKP) in breast cancer.28
290384212017Stabilization of phosphofructokinase 1 platelet isoform by AKT promotes tumorigenesis.28
186828472008Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes.18
186828472008Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes.18
207129032010Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.18
124385652002Trifunctional chemical probes for the consolidated detection and identification of enzyme activities from complex proteomes.16

Citation

Dessen P

PFKP (phosphofructokinase, platelet)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46673/pfkp